720863002: Eiken syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Eiken syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Eiken syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322339011 Eiken syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3322340013 Eiken syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402516010 A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402517018 A rare, genetic, primary bone dysplasia syndrome characterised by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modelling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Eiken syndrome (disorder)	Is a	Multiple epiphyseal dysplasia	true	Inferred relationship	Some
Eiken syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Eiken syndrome (disorder)	Is a	Osteopenia	true	Inferred relationship	Some
Eiken syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Eiken syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Eiken syndrome (disorder)	Finding site	Structure of epiphysis	false	Inferred relationship	Some	4
Eiken syndrome (disorder)	Associated morphology	Osteopenia	false	Inferred relationship	Some	3
Eiken syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Eiken syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	3
Eiken syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Eiken syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Eiken syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Eiken syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Eiken syndrome (disorder)	Associated morphology	Osteopenia	false	Inferred relationship	Some	2
Eiken syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Eiken syndrome (disorder)	Finding site	Structure of epiphysis	true	Inferred relationship	Some	1
Eiken syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Eiken syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Eiken syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Eiken syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Eiken syndrome (disorder)	Associated morphology	Demineralized structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3322339011	Eiken syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322340013	Eiken syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402516010	A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402517018	A rare, genetic, primary bone dysplasia syndrome characterised by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modelling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core